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Preimplantation Genetic Testing (PGT) is a highly specialized procedure used in conjunction with in vitro fertilization (IVF) to identify genetic defects in embryos before they are implanted in the uterus. This technology is crucial for couples at risk of passing on genetic disorders to their offspring. PGT involves several steps:
IVF Process: The process begins with standard IVF, where eggs are harvested from the woman and fertilized with sperm in a laboratory to create embryos.
Embryo Development: The embryos are allowed to develop for a few days in the laboratory.
Biopsy: A small number of cells are then removed from each embryo through a biopsy. This typically happens at the blastocyst stage, where the embryo consists of about 100-150 cells.
Genetic Analysis: The extracted cells are analyzed for specific genetic conditions. There are different types of PGT:
- PGT-A (Aneuploidy Screening): Tests for chromosomal normality in embryos, helping to identify those with the correct number of chromosomes.
- PGT-M (Monogenic/Single Gene Disorders): Used to detect specific genetic disorders like cystic fibrosis or sickle cell anemia.
- PGT-SR (Structural Rearrangements): For individuals with chromosomal rearrangements, this helps identify embryos without these rearrangements.
Selection and Transfer: Embryos without identified genetic issues are then selected for transfer to the uterus, aiming to establish a healthy pregnancy.
Additional Steps: Any remaining healthy embryos can be frozen for future use, and the couple is usually recommended to undergo prenatal testing such as amniocentesis or chorionic villus sampling for additional confirmation.
PGT is particularly beneficial for couples known to be carriers of specific genetic conditions, those with a history of recurrent miscarriages, women of advanced maternal age, or where previous IVF cycles have failed. It significantly reduces the risk of having a child with a genetic disorder but does not completely eliminate it. The ethical and emotional aspects of PGT, including the decision-making process regarding which embryos to implant or discard, can be complex and require careful consideration and counseling.